Publications by authors named "A Dessein"
Acyl-CoA Oxidase-1 (ACOX1) deficiency (MIM 264470) is an autosomal recessive disease characterized by impairments in the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs, which is the first step in the catalysis of the β-oxidative breakdown of very long chain fatty acids (VLCFA) occuring in peroxisomes. The deleterious accumulation of VLCFA in several organs, including the brain, is a key biochemical feature of this disease which has devastating neurological consequences. ACOX1 deficiency is ultra-rare; as such, few studies have been conducted to determine the leading causes of symptoms or uncover new therapeutics.
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- * The majority of the 44 patients experienced disease onset during childhood, with symptoms including muscle pain, weakness, and frequent episodes of rhabdomyolysis, often leading to significant complications; many patients took years to receive a diagnosis.
- * The study suggests the establishment of a standardized patient registry to better track and evaluate treatment effectiveness and patient outcomes over the long term.
Metabolism of pancreatic neuroendocrine tumors: what can omics tell us?
Front Endocrinol (Lausanne)
November 2023
Article Synopsis
- Researchers are studying how the way cells use energy changes in pancreatic neuroendocrine tumors (pNETs), which is important for understanding how tumors grow.
- They looked at different gene data and metabolic information to see how these tumors differ from healthy cells.
- The study found unique metabolism patterns in pNETs that might affect tumor growth and could help in finding new ways to diagnose and treat these tumors in the future.
Tacrolimus (FK506) is an immunosuppressant that is experiencing a continuous rise in usage worldwide. The related side effects are known to be globally dose-dependent. Despite numerous studies on FK506, the mechanisms underlying FK506 toxicity are still not well understood.
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